Results 81 to 90 of about 575 (134)

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia. [PDF]

BMC Genom Data
Sahli C, Mabrouk S, Jemmeli N, Nouir S, Ltaifa R, Messaoud T, Abdennebi HB, Ferchichi S, Ghorbel M, Laradi S, Chkioua L.   +10 more
europepmc   +1 more source

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives. [PDF]

Kidney Int Rep
Golestaneh L, Ames EG, Doyle MH, Ghossein C, Grimm PC, Hewlett JL, Lim A, Marzinelli LS, Schmidt KJ, Smeryage B, Zaritsky JJ, Kaskel FJ.   +11 more
europepmc   +1 more source

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned. [PDF]

Front Pediatr
Borsheim B, Vissing A, Ghossein C.
europepmc   +1 more source

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care. [PDF]

Kidney Int Rep
Elenberg E.
europepmc   +1 more source

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]

ACS Pharmacol Transl Sci
Carneiro A, Jones DH.
europepmc   +1 more source

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis. [PDF]

Case Rep Ophthalmol
Angadi AM, Jakhalu K, Mushtaq I, Shah S.
europepmc   +1 more source

Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult. [PDF]

Kidney Int Rep
Jarnes JR, Palmer RS, Whitley CB.
europepmc   +1 more source

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old:  A case report. [PDF]

Med Int (Lond)
Choudhary DS, Shaheen J, Kala R, Dhakad A, Kalal BS.   +4 more
europepmc   +1 more source

Cystadrops^® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years. [PDF]

Ophthalmol Ther
Biswas S, Casteels I, Bremond-Gignac D, Hogan J, Iarossi G.   +4 more
europepmc   +1 more source

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 more
europepmc   +1 more source